Výsledky vyhledávání - "Maja Stojiljkovic-Petrovic"

Molecular Characteristics, Phenotypic Diversity and Genotype-Estimated Therapeutic Responsiveness of Serbian Patients with Phenylketonuria / MOLEKULARNE KARAKTERISTIKE, FENOTIPSKA RAZNOLIKOST I PROCENA ODGOVORA NA TERAPIJU ZASNOVANA NA GENOTIPU KOD SRPSKIH PACIJENATA SA FENILKETONURIJOM

Autor: Sonja Pavlovic, Kristel Klaassen, Maja Stojiljkovic-Petrovic

Publikováno v: Journal of Medical Biochemistry. 33:97-107

Summary Phenylketonuria (PKU) is a rare, inherited metabolic disease which is transmitted in an autosomal recessive pattern. PKU is caused by mutations in the gene encoding the phenylalanine hydroxylase (PAH) enzyme. This review cites the most promin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2a35c07e3fd345aba3688629c07bffdc
https://doi.org/10.2478/jomb-2013-0031

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Molecular Genetic Markers as a Basis for Personalized Medicine / MOLEKULARNO-GENETIČKI MARKERI KAO OSNOV ZA PERSONALIZOVANU MEDICINU

Autor: Sonja Pavlovic, Branka Zukic, Maja Stojiljkovic Petrovic

Publikováno v: Journal of Medical Biochemistry. 33:8-21

Summary Nowadays, genetics and genomics are fully integrated into medical practice. Personalized medicine, also called genome-based medicine, uses the knowledge of the genetic basis of disease to individualize treatment for each patient. A number of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::24293ff4a73a6a420924cc0d0868c501
https://doi.org/10.2478/jomb-2013-0035

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Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy

Autor: Eleana F. Stavrou, Arsinoi Paizi, Sjaak Philipsen, Sonja Pavlovic, Branka Zukic, Alexandra Kourakli, Marianthi Georgitsi, Marina Bartsakoulia, Olga Giannakopoulou, Emily Giannopoulou, Maja Stojiljkovic-Petrovic, Christina Tafrali, Alexander E. Felice, Joseph Borg, George P. Patrinos, Milena Radmilovic, Adamantia Papachatzopoulou, Polyxeni Lambropoulou, Konstantinos Poulas

Publikováno v: Pharmacogenomics, 14(5), 469-483. Future Medicine Ltd.
Pharmacogenomics
Pharmacogenomics; Vol 14

Aim: In this study we explored the association between genetic variations in MAP3K5 and PDE7B genes, residing on chromosome 6q23, and disease severity in β-hemoglobinopathy patients, as well as the association between these variants with response to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5b16a9d90fb82a1b84b4b20d1043eb1
https://pubmed.ncbi.nlm.nih.gov/23556445

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Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin

Autor: Marina Bartsakoulia, Maja Stojiljkovic Petrovic, Milena Radmilovic, Lidija Dokmanovic, Nikola Kotur, Sonja Pavlovic, Biljana Stankovic, Branka Zukic, George P. Patrinos, Marianthi Georgitsi

Publikováno v: Annals of hematology. 92(1)

Hereditary persistence of fetal hemoglobin (HPFH) is a rare hereditary condition resulting in elevated levels of fetal hemoglobin (HbF) in adults. Typical HPFH is associated with promoter mutations or large deletions affecting the human fetal globin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a91ee61bb37933eb8e006b4b4c51c59
https://pubmed.ncbi.nlm.nih.gov/23161389

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